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Your search keyword '"Cazeneuve, Cécile"' showing total 17 results

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17 results on '"Cazeneuve, Cécile"'

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1. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

3. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

4. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

7. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

8. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

9. Parkinsonʼs disease-related LRRK2 G2019S mutation results from independent mutational events in humans

11. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

16. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

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